Title : Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Pub. Date : 2019 Dec

PMID : 31754021






1 Functional Relationships(s)
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Protein Name
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1 NPC is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of unesterified cholesterol and glycolipids. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens